Norethindrone acetate in the medical management of adenomyosis.

The role of norethindrone acetate (NA) in the management of adenomyosis was evaluated with a retrospective chart review of 28 premenopausal women between 27-49 years of age presenting with moderate to severe pelvic pain and bleeding. Bleeding and dysmenorrhea scores were analyzed using paired T-tests. There was significant improvement of both dysmenorrhea and bleeding after treatment. Age showed no correlation with dysmenorrhea or bleeding. Low dose NA could be considered an effective, well-tolerated and inexpensive medical alternative to surgery for treating symptomatic adenomyosis. Large multicentric studies may help validate our findings.

Management of dysfunctional uterine bleeding based on endometrial thickness.

OBJECTIVE: To manage patients with dysfunctional uterine bleeding (DUB) according to endometrial thickness. METHODS: A retrospective chart review of 49 patients who reported 8 or more days of bleeding was performed. They were then divided into three groups based on endometrial thickness (mm): less than 6, 6-11, and greater than 11. These three groups were treated with combined oral contraceptive pills (OCP), conjugated estrogen plus progesterone and megestrol respectively. Patients given megestrol also underwent endometrial biopsy before treatment. Patients recorded the degree of bleeding each day for one month after starting treatment. RESULTS: Mean endometrial thickness in the combined OCPs, conjugated estrogen plus progesterone and megestrol groups were 4, 8 and 14 mm, respectively. Combined OCPs decreased bleeding from 46 to 8 days (P < 0.05, n = 8). Conjugated estrogen plus progesterone decreased the number of days of bleeding from a mean of 41 to 9 (P < 0.01, n = 16). Megestrol decreased bleeding from 54 to 3 days (P < 0.001, n = 25). 52% of patients given megestrol had endometrial hyperplasia. CONCLUSION: These results support the effectiveness of treating patients with DUB according to endometrial thickness.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with neurodevelopmental disorders referred for clinical testing. We detected a recurrent 1.4 Mb deletion at 17q12, which harbors HNF1B, the gene responsible for renal cysts and diabetes syndrome (RCAD), in 18/15,749 patients, including several with ASD, but 0/4,519 controls. We identified additional shared phenotypic features among nine patients available for clinical assessment, including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. In a large follow-up sample, the same deletion was identified in 2/1,182 ASD/neurocognitive impairment and in 4/6,340 schizophrenia patients, but in 0/47,929 controls (corrected p = 7.37 × 10⁻5). These data demonstrate that deletion 17q12 is a recurrent, pathogenic CNV that confers a very high risk for ASD and schizophrenia and show that one or more of the 15 genes in the deleted interval is dosage sensitive and essential for normal brain development and function. In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only.

Adverse effects of phytoestrogens on reproductive health: a report of three cases.

BACKGROUND: Phytoestrogens have been thought to have favorable effects on women's health and perhaps in offsetting cancers. The possible adverse effects of phytoestrogens have not been evaluated. CASES: Abnormal uterine bleeding with endometrial pathology in three women was found to be related to a high intake of soy products. The first woman had postmenopausal bleeding with uterine polyp, proliferative endometrium and a growing leiomyoma. The second woman presented with severe dysmenorrhea, abnormal uterine bleeding, endometriosis and uterine leiomyoma not responding to treatment. The third woman with severe dysmenorrhea, abnormal uterine bleeding, endometriosis and uterine leiomyomata presented with secondary infertility. All three women improved after withdrawal of soy from their diet. CONCLUSION: Additional information on phytoestrogens is necessary to ascertain their safety before they can be routinely used as supplements.